Hereditary ataxia with onset in adulthood
Gene: SYNGAP1

SYNGAP1 (synaptic Ras GTPase activating protein 1)
EnsemblGeneIds (GRCh38): ENSG00000197283
EnsemblGeneIds (GRCh37): ENSG00000197283
OMIM: 603384, Gene2Phenotype
SYNGAP1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Plenty of reports in the literature, OMIM suggests ataxia seen in at least some patients
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autosomal dominant mental retardation 5, 612621

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Intellectual developmental disorder, autosomal dominant 5, OMIM:612621

OMIM

603384

Clinvar variants

Variants in SYNGAP1

Penetrance

None

Panels with this gene

History Filter Activity

1 May 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SYNGAP1 were changed from Autosomal dominant mental retardation 5, 612621 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621

27 Apr 2019, Gel status: 3